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Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I
BACKGROUND: Limb girdle muscular dystrophies (LGMD) are inclusive of 7 autosomal dominant and 14 autosomal recessive disorders featuring progressive muscle weakness and atrophy. Studies of cardiac function have not yet been well-defined in deficiencies of dysferlin (LGMD2B) and fukutin related prote...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3170213/ https://www.ncbi.nlm.nih.gov/pubmed/21816046 http://dx.doi.org/10.1186/1532-429X-13-39 |
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author | Rosales, Xiomara Q Moser, Sean J Tran, Tam McCarthy, Beth Dunn, Nicholas Habib, Philip Simonetti, Orlando P Mendell, Jerry R Raman, Subha V |
author_facet | Rosales, Xiomara Q Moser, Sean J Tran, Tam McCarthy, Beth Dunn, Nicholas Habib, Philip Simonetti, Orlando P Mendell, Jerry R Raman, Subha V |
author_sort | Rosales, Xiomara Q |
collection | PubMed |
description | BACKGROUND: Limb girdle muscular dystrophies (LGMD) are inclusive of 7 autosomal dominant and 14 autosomal recessive disorders featuring progressive muscle weakness and atrophy. Studies of cardiac function have not yet been well-defined in deficiencies of dysferlin (LGMD2B) and fukutin related protein (LGMD2I). In this study of patients with these two forms of limb girdle muscular dystrophy, cardiovascular magnetic resonance (CMR) was used to more specifically define markers of cardiomyopathy including systolic dysfunction, myocardial fibrosis, and diastolic dysfunction. METHODS: Consecutive patients with genetically-proven LGMD types 2I (n = 7) and 2B (n = 9) and 8 control subjects were enrolled. All subjects underwent cardiac magnetic resonance (CMR) on a standard 1.5 Tesla clinical scanner with cine imaging for left ventricular (LV) volume and ejection fraction (EF) measurement, vector velocity analysis of cine data to calculate myocardial strain, and late post-gadolinium enhancement imaging (LGE) to assess for myocardial fibrosis. RESULTS: Sixteen LGMD patients (7 LGMD2I, 9 LGMD2B), and 8 control subjects completed CMR. All but one patient had normal LV size and systolic function; one (type 2I) had severe dilated cardiomyopathy. Of 15 LGMD patients with normal systolic function, LGE imaging revealed focal myocardial fibrosis in 7 (47%). Peak systolic circumferential strain rates were similar in patients vs. controls: ε(endo )was -23.8 ± 8.5vs. -23.9 ± 4.2%, ε(epi )was -11.5 ± 1.7% vs. -10.1 ± 4.2% (p = NS for all). Five of 7 LGE-positive patients had grade I diastolic dysfunction [2I (n = 2), 2B (n = 3)]. that was not present in any LGE-negative patients or controls. CONCLUSIONS: LGMD2I and LGMD2B generally result in mild structural and functional cardiac abnormalities, though severe dilated cardiomyopathy may occur. Long-term studies are warranted to evaluate the prognostic significance of subclinical fibrosis detected by CMR in these patients. |
format | Online Article Text |
id | pubmed-3170213 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-31702132011-09-10 Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I Rosales, Xiomara Q Moser, Sean J Tran, Tam McCarthy, Beth Dunn, Nicholas Habib, Philip Simonetti, Orlando P Mendell, Jerry R Raman, Subha V J Cardiovasc Magn Reson Research BACKGROUND: Limb girdle muscular dystrophies (LGMD) are inclusive of 7 autosomal dominant and 14 autosomal recessive disorders featuring progressive muscle weakness and atrophy. Studies of cardiac function have not yet been well-defined in deficiencies of dysferlin (LGMD2B) and fukutin related protein (LGMD2I). In this study of patients with these two forms of limb girdle muscular dystrophy, cardiovascular magnetic resonance (CMR) was used to more specifically define markers of cardiomyopathy including systolic dysfunction, myocardial fibrosis, and diastolic dysfunction. METHODS: Consecutive patients with genetically-proven LGMD types 2I (n = 7) and 2B (n = 9) and 8 control subjects were enrolled. All subjects underwent cardiac magnetic resonance (CMR) on a standard 1.5 Tesla clinical scanner with cine imaging for left ventricular (LV) volume and ejection fraction (EF) measurement, vector velocity analysis of cine data to calculate myocardial strain, and late post-gadolinium enhancement imaging (LGE) to assess for myocardial fibrosis. RESULTS: Sixteen LGMD patients (7 LGMD2I, 9 LGMD2B), and 8 control subjects completed CMR. All but one patient had normal LV size and systolic function; one (type 2I) had severe dilated cardiomyopathy. Of 15 LGMD patients with normal systolic function, LGE imaging revealed focal myocardial fibrosis in 7 (47%). Peak systolic circumferential strain rates were similar in patients vs. controls: ε(endo )was -23.8 ± 8.5vs. -23.9 ± 4.2%, ε(epi )was -11.5 ± 1.7% vs. -10.1 ± 4.2% (p = NS for all). Five of 7 LGE-positive patients had grade I diastolic dysfunction [2I (n = 2), 2B (n = 3)]. that was not present in any LGE-negative patients or controls. CONCLUSIONS: LGMD2I and LGMD2B generally result in mild structural and functional cardiac abnormalities, though severe dilated cardiomyopathy may occur. Long-term studies are warranted to evaluate the prognostic significance of subclinical fibrosis detected by CMR in these patients. BioMed Central 2011-08-04 /pmc/articles/PMC3170213/ /pubmed/21816046 http://dx.doi.org/10.1186/1532-429X-13-39 Text en Copyright ©2011 Rosales et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Rosales, Xiomara Q Moser, Sean J Tran, Tam McCarthy, Beth Dunn, Nicholas Habib, Philip Simonetti, Orlando P Mendell, Jerry R Raman, Subha V Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I |
title | Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I |
title_full | Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I |
title_fullStr | Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I |
title_full_unstemmed | Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I |
title_short | Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I |
title_sort | cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2b and 2i |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3170213/ https://www.ncbi.nlm.nih.gov/pubmed/21816046 http://dx.doi.org/10.1186/1532-429X-13-39 |
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